Canonical Allele Identifier: CA2277817989

Gene: GAA

Linked Data

• ClinVar Variation Id: 1123395
• ClinVar RCV Id: RCV001454414
• dbSNP Id: rs2039406901

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80118365del , CM000679.2:g.80118365del	GRCh38
NC_000017.10:g.78092164del , CM000679.1:g.78092164del	GRCh37
NC_000017.9:g.75706759del	NCBI36
NG_009822.1:g.21810del , LRG_673:g.21810del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.2646+8del	ENSP00000460543.2:n.2646+8del
ENST00000572080.2:c.*784+8del	ENSP00000459972.2:n.*784+8del
ENST00000577106.6:c.2646+8del	ENSP00000458306.2:n.2646+8del
ENST00000302262.8:c.2646+8del MANE Select	ENSP00000305692.3:n.2646+8del
ENST00000302262.7:c.2646+8del	ENSP00000305692.3:n.2646+8del
ENST00000390015.7:c.2646+8del	ENSP00000374665.3:n.2646+8del
ENST00000573556.1:n.599+8del
NM_000152.3:c.2646+8del , LRG_673t1:c.2646+8del	NP_000143.2:n.2646+8del
NM_001079803.1:c.2646+8del	NP_001073271.1:n.2646+8del
NM_001079804.1:c.2646+8del	NP_001073272.1:n.2646+8del
XM_005257193.1:c.2646+8del	XP_005257250.1:n.2646+8del
XM_005257194.3:c.2646+8del	XP_005257251.1:n.2646+8del
NM_000152.4:c.2646+8del	NP_000143.2:n.2646+8del
NM_001079803.2:c.2646+8del	NP_001073271.1:n.2646+8del
NM_001079804.2:c.2646+8del	NP_001073272.1:n.2646+8del
XM_005257193.2:c.2646+8del	XP_005257250.1:n.2646+8del
XM_005257194.4:c.2646+8del	XP_005257251.1:n.2646+8del
NM_000152.5:c.2646+8del MANE Select	NP_000143.2:n.2646+8del
NM_001079803.3:c.2646+8del	NP_001073271.1:n.2646+8del
NM_001079804.3:c.2646+8del	NP_001073272.1:n.2646+8del